To report a Chinese pedigree with benign hereditary chorea (BHC) related to NKX2-1 gene mutation. The proband, a 16-year-old boy, was admitted with a 15-year history of recurrent involuntary choreiform movements, exacerbated over 2 weeks. The results of whole-exome sequencing showed that the proband and his mother both had a heterozygous mutation in exon 2 of the NKX2-1 gene (c.231_232dup:p.Pro78Hisfs *24), leading to a clinical diagnosis of BHC. No patient carrying this variant was previously reported in the literature. The clinical phenotype of NKX2-1 gene defects is complex, with BHC being a characteristic manifestation of the nervous system. This group of disorders is also referred to as NKX2-1-related disorders. This article discusses the clinical features, diagnosis and treatment points of patients with NKX2-1-related disorder with reference to the current literature, aiming to enhance clinicians′ understanding and management of this disease.

To report a Chinese pedigree with benign hereditary chorea (BHC) related to NKX2-1 gene mutation. The proband, a 16-year-old boy, was admitted with a 15-year history of recurrent involuntary choreiform movements, exacerbated over 2 weeks. The results of whole-exome sequencing showed that the proband and his mother both had a heterozygous mutation in exon 2 of the NKX2-1 gene (c.231_232dup:p.Pro78Hisfs *24), leading to a clinical diagnosis of BHC. No patient carrying this variant was previously reported in the literature. The clinical phenotype of NKX2-1 gene defects is complex, with BHC being a characteristic manifestation of the nervous system. This group of disorders is also referred to as NKX2-1-related disorders. This article discusses the clinical features, diagnosis and treatment points of patients with NKX2-1-related disorder with reference to the current literature, aiming to enhance clinicians′ understanding and management of this disease.

Objective:To investigate the clinical efficacy of fixed-bearing unicompartmental knee arthroplasty (UKA) in the treatment of anteromedial knee osteoarthritis or spontaneous osteonecrosis of the femoral condyle.Methods:Between June 2017 and June 2018, 62 consecutive patients were treated at Department of Joint Surgery, Fuzhou Second Hospital Affiliated to Xiamen University for anteromedial knee osteoarthritis or spontaneous osteonecrosis of the femoral condyle using a fixed-bearing UKA system. They were 27 men and 35 women, aged from 58 to 85 years (average, 69.8 years). There were 58 cases of anteromedial knee osteoarthritis and 4 cases of spontaneous osteonecrosis of the femoral condyle. The courses of disease ranged from 2 to 10 years (average, 5.1 years). Medial unicompartmental knee arthroplasty was performed for all the patients on the fixation platform SLED. Recorded were the hip-knee-ankle angle (HKA) of the patients 2 days after operation, Oxford knee score (OKS) and American Knee Society score (KSS) at the final follow-up and post-operative complications.Results:The 62 patients were followed up for 9 to 21 months (average, 15.6 months). Tibial plateau fracture occurred in one case who eventually obtained bony union after open reduction and internal fixation. Another case had a wound healing problem which responded to drainage and debridement with prosthesis preservation. Another case presented prepatellar pain which was improved after physical therapy. In the 62 patients, the HKA 2 days after operation (172.27°±1.61°) was significantly improved compared to the preoperative value (177.79°±1.32°), the OKS at the final follow-up (19.8±2.7) significantly lower than the preoperative value (50.2±3.1), and the KSS at the final follow-up (89.7±2.6) significantly higher than the preoperative value (49.6±5.2) (all P<0.05). Follow-ups revealed no cases of joint infection or prosthetic loosening. Conclusion:Fixed-bearing unicompartmental knee arthroplasty can lead to fine short-term outcomes for anteromedial knee osteoarthritis or spontaneous osteonecrosis of the femoral condyle.

With human placed in the whole nature, by following the biologic evolution path, the property of channel structure for "imprinting template" in meridian andwas explored with supramolecular chemistry. In the history of biologic evolution, each molecule in "molecule society" gradually developed into various highly-ordered supramolecular bodies based on self-identification, self-assembly, self-organization, self-replicating of"imprinting template", and thereby the original biochemical system was established, and finally evolved into human. In the forming process of supramolecular bodies, the channel structure of"imprinting template" in guest supramolecular bodies would be kept by host supramolecular bodies, and communicate with the outside to exchange materials, energy, information, otherwise life phenomenon could not continue, for which it was the chemical nature of biolo-gical supramolecular bodies for body to develop meridian. Therefore, the human was a gigantic and complicated supramolecules body in biological nature, and possessed the supramolecules "imprinting template" at each stage of evolution, for which the meridians were formed. When meridians converged, acupoints appeared; when acupointsconverged,appeared. With the promotion of the blood from heart, according to"imprinting template", the guest supramolecular bodies and host meridian produced-analysis, which was the-phenomenon of guest in meridian. It presented asimage of physiology and pathology as well as action regularities of medication and acupuncture tolerance, by which current various meridian viewpoints could be explained and propose the hypothesis of meridian supramolecular bodies. The meridian and its phenomenon was decide by its "imprinting template" of supramolecular bodies and self-reaction regularities, which abided through the living nature. This was the substance for meridian biology.

Objective To summarize the hot spots and cutting-edges by exploring Multidisciplinary Team (MDT) research in cancer.Methods CiteSpace is used to analyze MDT in cancer visually.Results 2 160 related literatures,10 key literatures,15 main clusters and 29 burst terms are detected.Conclusion MDT research on cancer mainly focuses on operation process,implemention and evaluation of effects.Improving efficiency,cost-effectiveness analysis and randomized controlled trial is the cutting-edge topics.This provides a new perspective for China.

Objective To analyze the distribution characteristics and risk factors of extended stay over 30 days at tertiary comprehensive hospitals, and explore methods of shortening average length of stay(LOS).Methods Homepage of all inpatients discharged from October 2014 to October 2015 of 31 tertiary comprehensive hospitals in Shanxi province were collected.39 234 cases of these inpatients stayed over 30 days and their case information was complete.A generalized linear model was used for risk factors analysis.Results With the extension of LOS, most of the inpatients with extended stay were found during their 30th-40th days, accounting for 50.21% of all and constituting the highest daily costs as well.The ratio of inpatients decreases with their LOS, and its distribution presents a positive skew in entirety.Distribution of inpatients over 30 days identified urban employees under medical insurance accounting for the highest ratio among all payment categories,and those from the department of orthopedics for the highest ratio among all departments, while those of diseases from injury and poisoning accounting for the highest ratio among all disease categories.The findings indicated ten important factors for extended stay, namely gender, medical payment category, ICD, inter-department transfer, nosocomial infection, and clinical pathway.Conclusions To strengthen management of specific departments and inpatients, focus on key process of medical quality, and accelerate medical insurance payment reform can effectively control extended stay.